Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0007042	HP:0007042	Focal white matter lesions	0	ADNP CL E G H	23394	15766	ORPHA:404448	ADNP syndrome	HP:0040283 - Occasional	47
HP:0007042	HP:0007042	Focal white matter lesions	0	MTOR CL E G H	2475	3942	OMIM:607341	Focal cortical dysplasia of taylor	.	68
HP:0007042	HP:0007042	Focal white matter lesions	0	MTRFR CL E G H	91574	26784	ORPHA:320375	Autosomal recessive spastic paraplegia type 55	HP:0040282 - Frequent
HP:0007042	HP:0007042	Focal white matter lesions	0	PDP1 CL E G H	54704	9279	ORPHA:79246	Pyruvate dehydrogenase phosphatase deficiency		52
HP:0007042	HP:0007042	Focal white matter lesions	0	PIK3C2A CL E G H	5286	8971	ORPHA:557003	Oculocerebrodental syndrome	HP:0040283 - Occasional
HP:0007042	HP:0007042	Focal white matter lesions	0	POLG CL E G H	5428	9179	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040283 - Occasional	464
HP:0007042	HP:0007042	Focal white matter lesions	0	POLG2 CL E G H	11232	9180	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040283 - Occasional	45
HP:0007042	HP:0007042	Focal white matter lesions	0	RNASET2 CL E G H	8635	21686	OMIM:612951	Leukoencephalopathy, cystic, without megalencephaly	.	37
HP:0007042	HP:0007042	Focal white matter lesions	0	RRM2B CL E G H	50484	17296	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040283 - Occasional	125
HP:0007042	HP:0007042	Focal white matter lesions	0	SLC25A4 CL E G H	291	10990	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040283 - Occasional	68
HP:0007042	HP:0007042	Focal white matter lesions	0	TREX1 CL E G H	11277	12269	ORPHA:247691	Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations		56
HP:0007042	HP:0007042	Focal white matter lesions	0	TSC1 CL E G H	7248	12362	OMIM:607341	Focal cortical dysplasia of taylor	.	1090
HP:0007042	HP:0007042	Focal white matter lesions	0	TSC2 CL E G H	7249	12363	OMIM:607341	Focal cortical dysplasia of taylor	.	2738
HP:0007042	HP:0007042	Focal white matter lesions	0	TWNK CL E G H	56652	1160	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040283 - Occasional	113
HP:0007042	HP:0007042	Focal white matter lesions	0	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation		362
HP:0007042	HP:0007042	Focal white matter lesions	0	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22		362
HP:0007042	HP:0040328	Focal hyperintensity of cerebral white matter on MRI	1	PDP1 CL E G H	54704	9279	ORPHA:79246	Pyruvate dehydrogenase phosphatase deficiency	HP:0040282 - Frequent	52
HP:0007042	HP:0040328	Focal hyperintensity of cerebral white matter on MRI	1	TREX1 CL E G H	11277	12269	ORPHA:247691	Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations	HP:0040283 - Occasional	56
HP:0007042	HP:0040331	Focal hypointensity of cerebral white matter on MRI	1	TREX1 CL E G H	11277	12269	ORPHA:247691	Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations	HP:0040283 - Occasional	56
HP:0007042	HP:0040331	Focal hypointensity of cerebral white matter on MRI	1	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation	HP:0040283 - Occasional	362
HP:0007042	HP:0040331	Focal hypointensity of cerebral white matter on MRI	1	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22	HP:0040283 - Occasional	362